Laing distal myopathy
Evidence-based neurology checklist on laing distal myopathy: Genetics This is a myosinopathy It is caused by MYH7 gene mutations on chromosome 14 The transmission is autosomal dominant It is allelic with hyaline body myopathy The onset age is 4-25 years Early weakness: features Later features:…
Genetics
- This is a myosinopathy
- It is caused by MYH7 gene mutations on chromosome 14
- The transmission is autosomal dominant
- It is allelic with hyaline body myopathy
- The onset age is 4-25 years
Early weakness: features
Later features: affected muscles
Other features
Muscle biopsy
Magnetic resonance imaging (MRI) muscle: sites of atrophy and signal intensity
Other investigations
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.
- Lamont PJ, Udd B, Mastaglia FL, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. JNNP 2006; 77:208-215.
- Meredith C, Herrmann R, Parry C, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004; 75:703-708.
- Yu M, Zhu Y, Lu Y, Lv H, Zhang W, Yuan Y, Wang Z. Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations. Orphanet J Rare Dis 2020; 15:344.
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