The congenital muscular dystrophies comprise a genetically and clinically heterogeneous
group of disorders characterized by early onset of progressive muscle weakness and often …

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders.
Until recently most of the proteins associated with muscular dystrophies were believed to be …

The extracellular matrix (ECM) provides both a physical framework and a microenvironment
that supplies instructive signals from the earliest stages of multicellular development. As a …

Intragenic homozygous deletions in the Large gene are associated with a severe
neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a …

Muscle–eye–brain disease (MEB, OMIM 253280) is an autosomal recessive disorder
characterized by a distinct triad of congenital muscular dystrophy, structural eye …

Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular
dystrophies (CMD) associated with defects in α‐DG O‐glycosylation, which comprises …

Publisher Summary Lissencephaly type II is a group of complex brain malformations that
anatomically consists of “cobblestone” cortex, abnormal white matter, enlarged ventricles …

Most evaluations of muscle disease have been derived from the study of extremity muscles,
which differ from extraocular muscles (EOMs). Before discussing muscle diseases that affect …

Abstract Walker-Warburg syndrome (WWS), Muscle-Eye-Brain disease (MEB), and
Fukuyama-type congenital muscular dystrophy (FCMD) are linked to genes that encode …

Publisher Summary Myogenic development and differentiation is regulated by a number of
developmental genes. Abnormal suprasegmental input from the brain and spinal cord can …