Nemaline myopathy: other variants
Evidence-based neurology checklist on nemaline myopathy: other variants: Neonatal form: features Decreased foetal movements Polyhydramnios Arthrogryposis Hypotonia Severe muscle weakness Impaired suck and swallowing Gastro-oesophageal reflux Respiratory muscle weakness Dilated cardiomyopathy Cap…
Neonatal form: features
- Decreased foetal movements
- Polyhydramnios
- Arthrogryposis
- Hypotonia
- Severe muscle weakness
- Impaired suck and swallowing
- Gastro-oesophageal reflux
- Respiratory muscle weakness
- Dilated cardiomyopathy
Cap myopathy: mutations
Core rod myopathy
Rod myopathy
Zebra body myopathy
Other forms
References
- 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.
- Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001; 7:362-368.
- Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. Pediatr Neurol 2014; 51:192-197.
- Lornage X, Malfatti E, Chéraud C, et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol 2017; 81:467-473.
- Malfatti E, Schaeffer U, Chapon F, et al. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Neuromuscul Disord 2013; 23:992-997.
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