Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized
by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. …

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by
clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The …

Over the past decade there have been major advances in defining the genetic basis of the
majority of congenital myopathy subtypes. However the relationship between each congenital …

Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by
prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in …

Vici syndrome is a recessively inherited multisystem disorder characterized by callosal
agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To …

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the
LAMA2 gene. We report 51 patients with MDC1A and examine the relationship between …

Multi‐minicore disease is an autosomal recessive congenital myopathy characterized by
the presence of multiple, short‐length core lesions (minicores) in both muscle fiber types. …

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central
cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is …

Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized
causes of both malignant hyperthermia susceptibility (MHS) and central core disease (…