Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Holling, Tess; Lisfeld, Jasmin; Johannsen, Jessika; Matschke, Jakob; Song, Feizhi; Altmeppen, Hermann Clemens; Kutsche, Kerstin

Holling, Tess; Lisfeld, Jasmin; Johannsen, Jessika; Matschke, Jakob; Song, Feizhi; Altmeppen, Hermann Clemens; Kutsche, Kerstin.

Affiliation

Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Johannsen J; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Matschke J; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Song F; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Altmeppen HC; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hum Mutat ; 43(9): 1224-1233, 2022 09.

Article in En | MEDLINE | ID: mdl-35510366

Subject(s)

Myopathies, Nemaline; Child, Preschool; Humans; Muscle, Skeletal/pathology; Mutation; Myopathies, Nemaline/pathology; Protein Isoforms/genetics; Troponin T/genetics

Key words

actin; autosomal recessive; loss of function; muscle biopsy; nemaline myopathy; nemaline rods

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Full text: 1 Database: MEDLINE Main subject: Myopathies, Nemaline Limits: Child, preschool / Humans Language: En Year: 2022 Type: Article

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Full text: 1 Database: MEDLINE Main subject: Myopathies, Nemaline Limits: Child, preschool / Humans Language: En Year: 2022 Type: Article