Sarcoglycan deficiency in a large Italian population of myopathic patients
Prelle, A. ; Comi, G. P. ; Tancredi, L. ; Rigoletto, C. ; Ciscato, P. ; Fortunato, F. ; Nesti, S. ; Sciacco, M. ; Robotti, M. ; Bazzi, P. ; Felisari, G. ; Moggio, M. ; Scarlato, G.
Springer
Published 1998
Springer
Published 1998
| ISSN: |
1432-0533
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|---|---|
| Keywords: |
Key words Limb-girdle dystrophy ; Sarcoglycan ; complex ; Sarcoglycanopathy
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295402042097664 |
|---|---|
| autor | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. |
| autorsonst | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. |
| book_url | http://dx.doi.org/10.1007/s004010050926 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM203623088 |
| issn | 1432-0533 |
| journal_name | Acta neuropathologica |
| materialart | 1 |
| notes | Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms. |
| package_name | Springer |
| publikationsjahr_anzeige | 1998 |
| publikationsjahr_facette | 1998 |
| publikationsjahr_intervall | 8004:1995-1999 |
| publikationsjahr_sort | 1998 |
| publisher | Springer |
| reference | 96 (1998), S. 509-514 |
| schlagwort | Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy |
| search_space | articles |
| shingle_author_1 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. |
| shingle_author_2 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. |
| shingle_author_3 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. |
| shingle_author_4 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. |
| shingle_catch_all_1 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. Sarcoglycan deficiency in a large Italian population of myopathic patients Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms. 1432-0533 14320533 Springer |
| shingle_catch_all_2 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. Sarcoglycan deficiency in a large Italian population of myopathic patients Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms. 1432-0533 14320533 Springer |
| shingle_catch_all_3 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. Sarcoglycan deficiency in a large Italian population of myopathic patients Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms. 1432-0533 14320533 Springer |
| shingle_catch_all_4 | Prelle, A. Comi, G. P. Tancredi, L. Rigoletto, C. Ciscato, P. Fortunato, F. Nesti, S. Sciacco, M. Robotti, M. Bazzi, P. Felisari, G. Moggio, M. Scarlato, G. Sarcoglycan deficiency in a large Italian population of myopathic patients Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Key words Limb-girdle dystrophy Sarcoglycan complex Sarcoglycanopathy Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms. 1432-0533 14320533 Springer |
| shingle_title_1 | Sarcoglycan deficiency in a large Italian population of myopathic patients |
| shingle_title_2 | Sarcoglycan deficiency in a large Italian population of myopathic patients |
| shingle_title_3 | Sarcoglycan deficiency in a large Italian population of myopathic patients |
| shingle_title_4 | Sarcoglycan deficiency in a large Italian population of myopathic patients |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:35:37.834Z |
| titel | Sarcoglycan deficiency in a large Italian population of myopathic patients |
| titel_suche | Sarcoglycan deficiency in a large Italian population of myopathic patients |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM203623088 |