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01-02-2018 | Original Article

MYH7 mutation associated with two phenotypes of myopathy

Authors: Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu

Published in: Neurological Sciences | Issue 2/2018

Abstract

The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis. Two MYH7 mutations, p.R1845W and p.E1687del, were identified. p.R1845W was found in a male patient showing weakness of both terminal lower legs without foot drop. Muscle pathology stainings characteristically showed the hyaline body in the intracytoplasmic location. The novel mutation p.E1687del was found in a family with seven patients. The proband showed foot drop, scoliosis, and winged scapula, while his mother only showed mild foot drop and winged scapula. Muscle pathology analysis showed congenital centronucleus myopathy. Both cases only showed muscular disorder and had no cardiomyopathy. This study, for the first time, reports the MYH7 mutations associated with centronucleus myopathy.

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Title: MYH7 mutation associated with two phenotypes of myopathy
Authors: Nan Li
Zhe Zhao
Hongrui Shen
Qi Bing
Xuan Guo
Jing Hu
Publication date: 01-02-2018
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 2/2018
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-017-3192-2

At a glance: The STEP trials

Springer Medicine

MYH7 mutation associated with two phenotypes of myopathy

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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