Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Zima, Judith; Eaton, Alison; Pál, Endre; Till, Ágnes; Itō, Yoko; Warman‐Chardon, Jodi; Hartley, Taila; Cagnone, Gaël; Melegh, Béla; Canada, Care Rare; Boycott, Kym M.; Hadzsiev, Kinga

doi:10.1016/j.ejmg.2019.04.012

Cited by 12 publications

(14 citation statements)

References 19 publications

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“…Referring to published articles on Laing distal myopathy, common mutation types also include missense mutations, and in-frame indels. The p.K1617del and p.E1508del have also been reported in a few studies [5,6,8,9,12,16,20,21,22].Besides these in-frame indels in our study, other reported mutations include p.E1687del, p.K1729del, p.E1669del, p.K1729dup, p.L1793del, p.K1784del [5,9,11,17,[27][28][29]…”

Section: Discussionsupporting

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

Zhu

et al. 2020

Preprint

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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.

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Section: Discussionsupporting

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

Zhu

et al. 2020

Preprint

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show abstract

“…Referring to published articles on Laing distal myopathy, common mutation types also include missense mutations, and inframe indels. The p.K1617del and p.E1508del have also been reported in a few studies [5,6,8,9,12,15,19,23,24].Besides these in-frame indels in our study, other reported mutations include p.E1687del, p.K1729del, p.E1669del, p.K1729dup, p.L1793del, p.K1784del [5,9,11,16,[26][27][28]. Therefore, in-frame deletions or duplications are common types of mutations in Laing distal myopathy.…”

Section: Discussionsupporting

confidence: 83%

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

Zhu

et al. 2020

Preprint

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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.

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“…Most mutations cause classical adult late onset LGMDs, but some mutations (e.g., p.F91I and p.F91L) are associated with an earlier onset and much more severe pathology, whereas others (e.g., p.D98del and p.F100V) show a distal onset [88,95,97]. Moreover, inter-and intrafamilial variability may be considerable [14,73,96]. However, on the tissue level, all described DNAJB6 mutations result in similar changes characterized by protein accumulations and the aggregation of several Z-disc proteins, leading to the pathological classification as myofibrillar myopathy (MFM).…”

Section: Clinical and Pathological Featuresmentioning

confidence: 99%

“…Respiratory involvement is rare, but patients with the severe p.F91I and p.F91L mutations had respiratory failure requiring mechanical ventilation [95]. On the other hand, the p.F91V mutation is not apparently affecting respiration and has a much milder phenotype and progression [96]. So far, there has been no report of cardiomyopathy in DNAJB6 patients, but given the proposed role of DNAJB6a in cardiomyopathy [41], monitoring of heart function is recommended.…”

Section: Clinical and Pathological Featuresmentioning

confidence: 99%

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

Sarparanta

Jonson

Kawan

et al. 2020

IJMS

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Skeletal muscle and the nervous system depend on efficient protein quality control, and they express chaperones and cochaperones at high levels to maintain protein homeostasis. Mutations in many of these proteins cause neuromuscular diseases, myopathies, and hereditary motor and sensorimotor neuropathies. In this review, we cover mutations in DNAJB6, DNAJB2, αB-crystallin (CRYAB, HSPB5), HSPB1, HSPB3, HSPB8, and BAG3, and discuss the molecular mechanisms by which they cause neuromuscular disease. In addition, previously unpublished results are presented, showing downstream effects of BAG3 p.P209L on DNAJB6 turnover and localization.

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Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Cited by 12 publications

References 19 publications

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

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

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

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

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