| Entry |
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| Name |
Congenital fiber type disproportion |
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| Supergrp |
Congenital myopathy [DS: H01810] |
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| Description |
Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings, in addition to a clinical presentation typical of congenital myopathies. CFTD is a genetically heterogenous condition with X-linked, autosomal dominant, and autosomal recessive inheritance patterns. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases, and recently mutations in the TPM3 gene were also found to cause CFTD.
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| Category |
Nervous system disease; Musculoskeletal disease
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
H00701 Congenital fiber type disproportion
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| Pathway |
| hsa04261 | Adrenergic signaling in cardiomyocytes |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN |
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| Title |
Mutations in TPM3 are a common cause of congenital fiber type disproportion. |
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| Journal |
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| Reference |
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| Authors |
Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH |
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| Title |
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. |
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| Journal |
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