Document Detail

Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent.
MedLine Citation:
PMID:  20644274     Owner:  NLM     Status:  MEDLINE    
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12 affected members (male:female-7:5). Mean age at onset of weakness was 17.63 + 5.48 years. Patients were classified according to muscle groups affected (F-face, S-scapula, H-humeral, PG-pelvic girdle, P-peroneal, A-loss of independent ambulation): FSH-A (2), four FSH (4), SH (3), FSH-PG (2) and one: F (1). Progression of weakness was classified as F>S>P>PG in eight cases, S> F>P in one, static in three. Eleven patients had electromyographic findings suggestive of myopathy and one had features of neurogenic involvement. Molecular diagnosis was done by southern blotting using probe p13E-11 after digestion of genomic DNA with EcoRI and/or EcoRI/BlnI for twelve patients and three unaffected relatives. No EcoRI fragment smaller than 35 Kb was seen in unaffected subjects. Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families.
Parag M Tamhankar; Shubha R Phadke
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology India     Volume:  58     ISSN:  0028-3886     ISO Abbreviation:  Neurol India     Publication Date:    2010 May-Jun
Date Detail:
Created Date:  2010-07-20     Completed Date:  2010-10-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0042005     Medline TA:  Neurol India     Country:  India    
Other Details:
Languages:  eng     Pagination:  436-40     Citation Subset:  IM    
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Barely Road, Lucknow 226 014, Uttar Pradesh, India.
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MeSH Terms
DNA Mutational Analysis / methods
Disease Progression
Electromyography / methods
Family Health
India / epidemiology
Middle Aged
Muscular Dystrophy, Facioscapulohumeral / classification,  diagnosis*,  genetics*
Nuclear Proteins / genetics
Restriction Mapping
Young Adult
Reg. No./Substance:
0/Nuclear Proteins

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