A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

Sirisena, Nirmala Dushyanthi; Samaranayake, U. M. Jayami Eshana; Neto, Osorio Lopes Abath; Foley, A. Reghan; Pathirana, B. A. P. Sajeewani; Neththikumara, Nilaksha; Paththinige, C. Sampath; Rathnayake, Pyara; Donkervoort, Sandra; Bönnemann, Carsten G.; Dissanayake, Vajira H. W.

doi:10.1186/s12883-021-02134-7

BMC Neurology

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Last updated: Thu, 18 Apr 2024 15:42:51 Z

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

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ISSN: 1471-2377

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