Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation
Abstract
TRIM 32-related Limb Girdle Muscular Dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the...
Paper Details
Title
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation
Published Date
Sep 1, 2021
Journal
Volume
31
Issue
9
Pages
886 - 890
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