Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
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| Title: | Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala). |
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| Authors: | 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. |
| Source: | Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1224-1233. Date of Electronic Publication: 2022 May 11. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24397 |
