Correlation Engine 2.0
Clear Search sequence regions


Sizes of these terms reflect their relevance to your search.

Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency and allowed a better perception of the different phenotypes and morphological abnormalities associated. We present a male Portuguese patient with the classical phenotype of Laing early-onset distal myopathy (MPD1) beginning at 6 years of age, very slowly progressive, and with a mild to moderate impact on daily life by the age of 56. Muscle biopsy showed a myopathic pattern with hyaline bodies and cores. The NGS panel for structural myopathies identified a novel missense heterozygous variant, c.T4652C (p.Leu1551Pro), in the exon 34 of the MYH7 gene. ©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.

Citation

Luís Negrão, Rita Machado, Miguel Lourenço, Ana Fernandez-Marmiesse, Olinda Rebelo. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 2020 Mar;39(1):24-28

Expand section icon Mesh Tags

Expand section icon Substances


PMID: 32607476

View Full Text