A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family

et al. 2020

Orphanet J Rare Dis

Background 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. Results 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. Conclusions 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.

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

Orphanet J Rare Dis

“…In this study, we have described a series of patients with genetic con rmed Laing distal myopathy. Up to now, there have been more than 30 articles on Laing distal myopathy, including three reports on Chinese patients [10][11][12]. So far, this is the largest report on Laing distal myopathy in China.…”

Section: Discussionmentioning

confidence: 99%

“…Up to now, a number of both sporadic and familial LDM cases have been reported around the world, including several Chinese cases [10][11][12]. Here, we report three Chines LDM pedigrees and one sporadic Chinese LDM patient, and describe the clinical, radiographical, pathological and mutational features of these cases, to further expand both the genotypes and the phenotypes of LDM.…”

Section: Introductionmentioning

confidence: 86%

Clinical Features and Genotypes of Laing Distal Myopathy in a Group of Chinese Patients, With In-Frame Deletions of MYH7 as Common Mutations

et al. 2020

Preprint

Abstract Background: 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 of Laing distal myopathy. Results: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness were common in our patients as well as neck flexion weakness. 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 severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting these are common mutations of Laing distal myopathy. Conclusions: Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of MYH7 gene are common causes of Laing distal myopathy.

Section: Discussionmentioning

confidence: 99%

“…Up to now, a number of both sporadic and familial LDM cases have been reported around the world, including several Chinese cases [10][11][12]. Here, we report three Chines LDM pedigrees and one sporadic Chinese LDM patient, and describe the clinical, radiographical, pathological and genetic features of these cases, to further expand both the genotypes and the phenotypes of LDM.…”

Section: Introductionmentioning

confidence: 86%

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

et al. 2020

Preprint

Background: 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. Results: 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. Conclusions: 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.