Title: | Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy |
Journal : | Neuromuscular disorders : NMD, 24, 8 |
Authors: | Chan SHS ; Foley AR ; Phadke R ; Mathew AA ; Pitt M ; Sewry C ; Muntoni F |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 677 |
Languages: | English |
Keywords : | case studies ; genetic mutations ; LAMA2 gene ; limb girdle muscular dystrophy ; merosin ; merosin related disease ; motor nerves ; MRI ; muscle weakness |
Keywords: | Congenital muscular dystrophy;Laminin alpha2;Laminin alpha5;Limb girdle muscular dystrophy;Merosin-deficient;Peripheral neuropathy; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.05.008 / Pubmed : 24957499 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24957499 |