Several types of muscular dystrophy are caused by defective linkage between α-dystroglycan (α-DG) and laminin. Among these, dystroglycanopathy, including Fukuyama-type congenital muscular dystrophy (FCMD), results from abnormal glycosylation of α-DG. Recent studies have shown that like-acetylglucosaminyltransferase (LARGE) strongly enhances the laminin-binding activity of α-DG. Therefore, resto...

Background: LAMA2-muscular dystrophy (LAMA2-MD) is an autosomal recessive disease, and the most common form of congenital muscular (CMD). Most patients develop a disease characterized by inability to achieve walking capacity, multiple joint deformities, respiratory insufficiency, some degree dysphagia. However, there gravity spectrum, never sitting position, while others can walk unassisted. Th...

OBJECTIVES To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations. DESIGN We retrospectively reviewed brain magnetic resonance imaging in patients with congenital muscular dystrophy and FKRP gene mutations. PATIENTS Thirteen patients with congenital ...

BACKGROUND Collagen VI related myopathies encompass a range of phenotypes with involvement of skeletal muscle, skin and other connective tissues. They represent a severe and relatively common form of congenital disease for which there is no treatment. Collagen VI in skeletal muscle and skin is produced by fibroblasts. AIMS & METHODS In order to gain insight into the consequences of collagen V...

Mutations in any of the three genes coding for the extracellular matrix protein collagen VI cause different types of muscle diseases, including Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Congenital Myosclerosis (1). Collagen VI null (Col6a1–/–) mice display a myopathic phenotype with organelle defects, mitochondrial dysfunction and spontaneous apoptosis of muscle fi...

In this issue of Neurology® Genetics, Endo et al.(1) report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far been recognized only as causing congenital muscular dystrophy (CMD).

Synonyms: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rig...

A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6–62 years. Seventy-two patients had Duchenne muscular dystrophy, 32 Becker muscular dystrophy, 30 limb-girdle muscular dystrophy, 39 facio-scapulo-humeral dystrophy, 29 myotonic dystrophy, 21 congenital myopathy, 10 congenital muscular dystrophy, 35 spinal ...