Preferred Label : Congenital myopathy 1b, autosomal recessive;
Symbol : CMYO1B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Multicore myopathy; Multiminicore disease with external ophthalmoplegia; Minicore myopathy with external ophthalmoplegia; Minicore myopathy; Multicore myopathy with external ophthalmoplegia; Multiminicore myopathy;
Description : Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically
by the presence of multiple areas of reduced mitochondrial oxidative activity running
along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.'
These regions show sarcomere disorganization and mitochondria depletion. Typically,
no dystrophic signs, such as muscle fiber necrosis or regeneration or significant
endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical
and genetic heterogeneity. Affected individuals have clinical features of a congenital
myopathy, including neonatal hypotonia, delayed motor development, and generalized
muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro
and Fardeau, 2002). Patients with recessive mutations in the RYR1 gene typically show
severe congenital muscular dystrophy with ophthalmoplegia. Skeletal muscle biopsy
may show variable features (summary by Kondo et al., 2012). Antenatal onset of minicore
myopathy with arthrogryposis (607552) has been described. See also rigid spine muscular
dystrophy (RSMD1; 602771), which is caused by mutation in the SEPN1 gene (606210).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the ryanodine receptor-1 gene (RYR1, 180901.0025);
Laboratory abnormalities : Normal serum creatine kinase;
Prefixed ID : #255320;
Origin ID : 255320;
UMLS CUI : C1850674;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
Not associated HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT