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Autosomal dominant centronuclear myopathy
AD centronuclear myopathyAD CNM
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Overview
Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting. 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 (summary by {4:Bitoun et al., 2005}).
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}) on chromosome Xq28; CNM2 ({255200}), caused by mutation in the BIN1 gene ({601248}) on chromosome 2q14; CNM4 ({614807}), caused by mutation in the CCDC78 gene ({614666}) on chromosome 16p13; CNM5 ({615959}), caused by mutation in the SPEG gene ({615950}) on chromosome 2q35; and CNM6 ({617760}), caused by mutation in the ZAK gene ({609479}) on chromosome 2q31.
The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see {159991.0001}.
Some patients with mutation in the RYR1 gene ({180901}) have findings of centronuclear myopathy on skeletal muscle biopsy (see {255320}). Source: Online Mendelian Inheritance in Man
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Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
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The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
AAMDSIF Online Academy (webinars)
200+ FREE webinars for patients, families and caregivers about rare blood cancers and bone marrow failure diseases.
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Disease Information
Descriptions of various rare blood cancers and bone marrow failure diseases.