MYOPATHY, CENTRONUCLEAR, 1

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
CNM1
Number of Symptoms 14
OrphanetNr:
OMIM Id: 160150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010628) Facial palsy 146 / 7739
2
(HPO:0000508) Ptosis 459 / 7739
3
(HPO:0000597) Ophthalmoparesis 71 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0002355) Difficulty walking 61 / 7739
6
(HPO:0001288) Gait disturbance 318 / 7739
7
(HPO:0001284) Areflexia 198 / 7739
8
(HPO:0001371) Flexion contracture 220 / 7739
9
(OMIM) Atrophy of type 1 fibers 1 / 7739
10
(OMIM) Muscle hypertrophy may occur 1 / 7739
11
(OMIM) Muscle weakness, primarily proximal 1 / 7739
12
(OMIM) Distal muscle weakness may occur 2 / 7739
13
(OMIM) Type 1 fiber predominance 9 / 7739
14
(OMIM) Muscle biopsy shows centralized nuclei 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Spiro et al. (1966) reported an isolated case of what the authors referred to as 'myotubular myopathy.' There was slowly progressive muscle weakness; muscle biopsy showed centrally located nuclei. In the development of skeletal muscle a 'myotubular' stage ...
Molecular genetics OMIM In affected members of 11 families with centronuclear myopathy, Bitoun et al. (2005) identified recurrent and de novo heterozygous missense mutations in the DNM2 gene (see, e.g., 602378.0004-602378.0007), which encodes a protein involved in endocytosis and membrane trafficking, ...