Distal myopathies: types and differentials
Evidence-based neurology checklist on distal myopathies: types and differentials: Types of distal myopathies Miyoshi Welander Udd Markesbery-Griggs Nonaka Laing Oculopharyngodistal Distal myopathy with cachexia Distal myopathy with nebulin gene mutation Tibial muscular dystrophy (TMD) Actinopathy…
Types of distal myopathies
- Miyoshi
- Welander
- Udd
- Markesbery-Griggs
- Nonaka
- Laing
- Oculopharyngodistal
- Distal myopathy with cachexia
- Distal myopathy with nebulin gene mutation
- Tibial muscular dystrophy (TMD)
- Actinopathy
- Distal dominant myopathy (DDM)
Differential diagnosis
References
- Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
- Malicdan MCV, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
- Pitceathly RDS, Tomlinson SE, Holton JL, et al. Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. JNNP 2013; 84:107-110.
- Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin 2014; 32:817-842.
- Wallgren-Pettersson C, Lehtokari VL, Kalimo H et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007; 130:1465-1476.
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