Congenital fiber type disproportion (CFTD)
Evidence-based neurology checklist on congenital fiber type disproportion (cftd): Genetic mutations TPM3: slow α-tropomyosin: this is the most frequent mutation ACTA1: α skeletal actin RYR1: ryanodine receptor 1 LMNA: laminin A SEPN1: selenoprotein N1 TPM2: β-tropomyosin Transmission Muscle…
Genetic mutations
- TPM3: slow α-tropomyosin: this is the most frequent mutation
- ACTA1: α skeletal actin
- RYR1: ryanodine receptor 1
- LMNA: laminin A
- SEPN1: selenoprotein N1
- TPM2: β-tropomyosin
Transmission
Muscle features
Skeletal features
Cardiac features
Other features
Muscle biopsy
Management
References
- Clarke NF, Ilkovski B, Cooper S, et al. The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol 2007; 61:552-561.
- Na SJ, Kim WK, Kim TS, Kang SW, Lee EY, Choi YC. Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. Yonsei Med J 2006; 47:513-518.
- North KN, Wang CH, Clarke N, et al; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014; 24:97-116.
- Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat 2010; 31:176-183.
- Kajino S, Ishihara K, Goto K, et al. Congenital fiber type disproportion myopathy caused by LMNA mutations. J Neurol Sci 2014; 340:94-98.
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