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Items: 4

1.

LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 family)

MedGen UID:
865225
Concept ID:
C4016788
Congenital Abnormality
2.

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia

MedGen UID:
376236
Concept ID:
C1847903
Disease or Syndrome
3.

DNM2-related intermediate Charcot-Marie-Tooth neuropathy

DNM2-related intermediate Charcot-Marie-Tooth neuropathy (DI-CMTB) has a classic, mild to moderately severe Charcot-Marie-Tooth hereditary neuropathy phenotype that often includes pes cavus foot deformity, depressed tendon reflexes, distal muscle weakness and atrophy, and sensory loss. Age of onset varies greatly among affected individuals and ranges from age two to 50 years. It is unusual for individuals with DI-CMTB to become wheelchair bound. Other findings include asymptomatic neutropenia and early-onset cataracts (often noted in childhood before age 15 years). [from GeneReviews]

MedGen UID:
338346
Concept ID:
C1847902
Disease or Syndrome
4.

Myopathy, centronuclear, 1

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) on chromosome Xq28; 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; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; and CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35. In addition, some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320). [from OMIM]

MedGen UID:
322437
Concept ID:
C1834558
Disease or Syndrome
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