Myopathy, centronuclear, 1

Preferred Label : Myopathy, centronuclear, 1;

Symbol : CNM1;

CISMeF acronym : CNM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myotubular myopathy, autosomal dominant; Myopathy, centronuclear, autosomal dominant;

Description : Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting (Bitoun et al., 2005). The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. - Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415); CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM3 (614408), caused by mutation in the MYF6 gene (159991) on chromosome 12q21; and CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13. In addition, some patients with mutation in the RYR1 gene (180901) can have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynamin-2 gene (DNM2, 602378.0004).;

Prefixed ID : #160150;

Details

Origin ID

160150;

UMLS CUI

C4551952;

Automatic exact mappings (from CISMeF team)
- autosomal dominant centronuclear myopathy [DO Concept]
- autosomal dominant myotubular myopathy [MeSH concept]
- myopathies, structural, congenital [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal dominant centronuclear myopathy (disorder) [SNOMED CT concept]
- Centronuclear Myopathy 1 [NCIt concept]
- Centronuclear myopathy with type I fibre hypotrophy [ICD-11 More detail]
- Myopathy, Centronuclear, 1 [MeSH concept]
- centronuclear myopathy 1 [DO Concept]
- myopathy, centronuclear, autosomal dominant [MeSH concept]
DO Cross reference
- centronuclear myopathy 1 [DO Concept]
Genes related to phenotype
- Dynamin 2 [OMIM gene]
- Myotubularin-related protein 14 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Easy fatigability [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Hyperlordosis [HPO term]
- Motor delay [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Sleepy facial expression [HPO term]
- Slowly progressive [HPO term]
- Type 1 muscle fiber predominance [HPO term]
ORDO concept(s)
- Autosomal dominant centronuclear myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal dominant centronuclear myopathy (disorder) [SNOMED CT concept]
- Centronuclear Myopathy 1 [NCIt concept]
- myopathy, centronuclear, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- centronuclear myopathy [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients