PLEC gene mutations cause familial disto-proximal myopathy and long QT syndrome mimicking mitochondrial disease

Plectin, a giant multifunctional cytolinker protein, plays a crucial role in orchestrating intermediate filament networks in a wide variety of tissues, as epithelia, skeletal muscle and heart. Mutations of the plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), EBS-MD with myasthenic features, EBS with pyloric atresia, EBS-Ogna, and LGMD2Q. Here we report an Italian family with a distinctive muscle phenotype and autosomal recessive transmission in which Whole Exome Sequencing identified homozygous mutations in PLEC gene.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
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Source: Neurological Research - Category: Neurology Tags: Neurol Res Source Type: research
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Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research
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Source: Journal of Ethnicity in Substance Abuse - Category: Addiction Authors: Source Type: research
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