Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.

doi:10.1136/jmg-2022-109132

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Article

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.

Journal of medical genetics - 1 Oct 2023

Justel Maria, Jou Cristina, Sariego-Jamardo Andrea, Juliá-Palacios Natalia Alexandra, Ortez Carlos, Poch Maria Luisa, Hedrera-Fernandez Antonio, Gomez-Martin Hilario, Codina Anna, Dominguez-Carral Jana, Muxart Jordi, Hernández-Laín Aurelio, Vila-Bedmar Sara, Zulaica Miren, Cancho-Candela Ramon, Castro Margarita Del Carmen, de la Osa-Langreo Alberto, Peña-Valenceja Alfonso, Marcos-Vadillo Elena, Prieto-Matos Pablo, Pascual-Pascual Samuel Ignacio, López de Munain Adolfo, Camacho Ana, Estevez-Arias Berta, Musokhranova Uliana, Olivella Mireia, Oyarzábal Alfonso, Jimenez-Mallebrera Cecilia, Domínguez-González Cristina, Nascimento Andrés, García-Cazorla Àngels, Natera-de Benito Daniel

Abstract excerpt

BACKGROUND: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle weakness and intellectual disability. METHODS: A clinical and histopathological characterisation of 25 Roma individuals with LGMD R18 caused by the homozygous TRAPPC11 c.1287+5G>A variant is reported. Functional...

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Identifiers

PMID: 37197784
DOI: 10.1136/jmg-2022-109132
PMCID: PMC10579479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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