Farber disease
Apr. 30, 2024
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Congenital muscular dystrophy variants with known gene defects (table)
MDC1A, congenital muscular dystrophy Type 1A; UCMD, Ullrich congenital muscular dystrophy; BM, Bethlem myopathy; WWS, Walker-Warburg syndrome; MEB, muscle-eye-brain disease, FCMD, Fukuyama congenital muscular dystrophy; MDC1C,merosin-deficient congenital muscular dystrophy Type 1C, MDC1D,merosin-deficient congenital muscular dystrophy Type 1D; CGD1o, congenital disorder of glycosylation Type 1o; CGD1u, congenital disorder of glycosylation Type 1u; CGD1m, congenital disorder of glycosylation type 1m; RSMD1, rigid spine muscular dystrophy; EDMD2, autosomal dominant Emery–Dreifuss muscular dystrophy. ≠Entrez Gene Identifier from the NCBI database. ±Online Mendelian Inheritance in Man. *Denotes original phenotype described in association with the gene; the dystroglycanopathies show considerable genetic heterogeneity and have been reclassified in OMIM as MDDG (muscular dystrophy–dystroglycanopathy) subtypes; however, the original phenotypic descriptions are still widely used. †SEPN1 mutations may also be associated with other myopathy phenotypes. ‡LMNA mutations are associated with a number of other non-CMD phenotypes. ^ACTA1 mutations are associated with other myopathy subtypes. (Contributed by Dr. Heinz Jungbluth.)