Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

• Published in: Orphanet journal of rare diseases 2020-12, Vol.15 (1), p.344-344, Article 344
• Main Authors: Yu, Meng, Zhu, Ying, Lu, Yuanyuan, Lv, He, Zhang, Wei, Yuan, Yun, Wang, Zhaoxia
• Format: Article
• Language: English
• Subjects: Age; Amino acids; Ankle; Apnea; Bone surgery; Cardiac Myosins - genetics; Cardiomyopathy; China; Diagnosis; Distal Myopathies - genetics; Electromyography; Gait; Gene mutations; Genetic aspects; Genetic disorders; Genotype; Genotypes; Humans; Laing distal myopathy; Magnetic resonance imaging; Medical research; Medicine, Experimental; Muscle, Skeletal; Muscles; Mutation; Mutation - genetics; MYH7; MYH7 gene; Myopathy; Myosin Heavy Chains - genetics; Neuromuscular diseases; Pathology; Patients; Phenotype; Phenotypes; Rare diseases; Scoliosis; Skeletal muscle; Sleep; Sleep apnea; Sleep disorders; Tendons
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-020-01626-y

Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness, as well as neck flexion weakness were common in our patients. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and the severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting that these are common mutations of Laing distal myopathy. Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of the MYH7 gene are common causes of Laing distal myopathy.