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Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation

Neuromuscular disorders : NMD, Vol. 31, Issue 9, Pages 886-890, 2021

PMID: 34244021

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 TRIM32 gene confirming the diagnosis of LGMD R8. This is a novel frameshift mutation and one of the very few cases of LGMD R8 reported from India.

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  https://www.ncbi.nlm.nih.gov/pubmed/34244021

 

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