F. Gray

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

N. Romero, B. Estournet, A. Barois, 2002, Neuromuscular Disorders.

Assignment of the gene for dyskeratosis congenita to Xq28

J. Connor, D. Gatherer, N. Affara, 1986, Human Genetics.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

K. Campbell, E. Chouery, A. Mégarbané, 2011, European Journal of Human Genetics.

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

S. Dréano, F. Pilot-Storck, J. Thibaud, 2010, Proceedings of the National Academy of Sciences.