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Title:

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

Document type:
Case Reports
Author(s):
Montagnese, Federica; Klupp, Elisabeth; Karampinos, Dimitrios C; Biskup, Saskia; Gläser, Dieter; Kirschke, Jan S; Schoser, Benedikt
Abstract:
Mutations in the guanosine diphosphate-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies, limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs); overall, 41 patients have been described.Two patients presented with a myasthenic syndrome (patient 1; 74 years old) and rhabdomyolysis (patient 2; 23 years old). Examinations included repetitive nerve stimulation, muscle biopsy and whole-body MRI (WBMRI); next generation s...     »
Journal title abbreviation:
Muscle Nerve
Year:
2017
Journal volume:
56
Journal issue:
2
Pages contribution:
334-340
Language:
eng
Fulltext / DOI:
doi:10.1002/mus.25485
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/27874200
Print-ISSN:
0148-639X
TUM Institution:
Fachgebiet Neuroradiologie (Prof. Zimmer)
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