A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?-MedSci.cn

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

Mora-Roldan, GA; Galaviz-Hernandez, C; Hiebert-Froese, J; Hernandez, A; Montes, L; Duran-Pasten, ML; Gazarian, K; Zenteno, JC

Zenteno, JC (通讯作者)，Inst Ophthalmol Conde de Valenciana, Dept Genet, Chimalpopoca 14, Mexico City 06800, DF, Mexico.

Abstract

We describe a sibling pair of Mennonite origin born from consanguineous parentage with a likely new phenotype of limb-girdle muscular dystrophy, short......

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A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

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