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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Schirwani, Schaida; Sarkozy, Anna; Phadke, Rahul; Childs, Anne-Marie; Mein, Rachael; Ismail, Azzam; Smith, Audrey; Muntoni, Francesco; Hobson, Emma; Pysden, Karen.
Affiliation
  • Schirwani S; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Chapeltown Road, Leeds, West Yorkshire LS7 4SA, United Kingdom. Electronic address: schaida.schirwani@nhs.net.
  • Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
  • Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom; Institute of Neurology, Queen Square, WC1N 3BG, London, United Kingdom.
  • Childs AM; Department of Paediatric Neurology, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Mein R; Viapath, Guy's Hospital, London, United Kingdom.
  • Ismail A; Histopathology department, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
  • Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, United Kingdom.
  • Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, Unit
  • Hobson E; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Chapeltown Road, Leeds, West Yorkshire LS7 4SA, United Kingdom.
  • Pysden K; Department of Paediatric Neurology, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
Neuromuscul Disord ; 31(4): 359-366, 2021 04.
Article in En | MEDLINE | ID: mdl-33558124
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Full text: 1 Database: MEDLINE Main subject: Skin Abnormalities / Tropomyosin / Abnormalities, Multiple / Malignant Hyperthermia / Myotonia Congenita Type of study: Prognostic_studies Limits: Child, preschool / Humans / Infant / Male / Newborn Language: En Year: 2021 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Skin Abnormalities / Tropomyosin / Abnormalities, Multiple / Malignant Hyperthermia / Myotonia Congenita Type of study: Prognostic_studies Limits: Child, preschool / Humans / Infant / Male / Newborn Language: En Year: 2021 Type: Article