Ontology highlight
ABSTRACT:
SUBMITTER: Huntoon V
PROVIDER: S-EPMC5905626 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Huntoon Virginia V Widrick Jeffrey J JJ Sanchez Colline C Rosen Samantha M SM Kutchukian Candice C Cao Siqi S Pierson Christopher R CR Liu Xiaoli X Perrella Mark A MA Beggs Alan H AH Jacquemond Vincent V Agrawal Pankaj B PB
Human molecular genetics 20180501 9
Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expressed gene (SPEG) mutations. Currently, the role of SPEG in skeletal muscle function is unclear as constitutive SPEG-deficient mice developed severe dilated cardiomyopathy and died in utero. We have g ...[more]