MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.

doi:10.1093/brain/awab275

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Article

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

Brain : a journal of neurology - 22 Oct 2021

Lopes Abath Neto Osorio, Medne Livija, Donkervoort Sandra, Rodríguez-García Maria Elena, Bolduc Véronique, Hu Ying, Guadagnin Eleonora, Foley A Reghan, Brandsema John F, Glanzman Allan M, Tennekoon Gihan I, Santi Mariarita, Berger Justin H, Megeney Lynn A, Komaki Hirofumi, Inoue Michio, Cotrina-Vinagre Francisco Javier, Hernández-Lain Aurelio, Martin-Hernández Elena, Williams Linford, Borell Sabine, Schorling David, Lin Kimberly, Kolokotronis Konstantinos, Lichter-Konecki Uta, Kirschner Janbernd, Nishino Ichizo, Banwell Brenda, Martínez-Azorín Francisco, Burgon Patrick G, Bönnemann Carsten G

Abstract excerpt

Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps to shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals in six families from different ethnic backgrounds with biallelic...

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PMID: 34581780
DOI: 10.1093/brain/awab275
PMCID: PMC8536936

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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