Muscular dystrophy and myopathy_Paediatric
Gene: MYL1
Phenotypic onset is seen typically at birth or in utero during pregnancy.
Skeletal muscle biopsy typically show a variation in fibre size with specific atrophy of the fast-twitch type II fibres.
PMID: 30275711
2 individuals from unrelated consanguineous families.
Zebrafish model showed a reduced muscle development resulting in the aberrant phenotypes.
Sources: OtherCreated: 9 May 2023, 12:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myopathy 14 (MIM#618414)
Publications
Two probands with congenital myopathy and a zebrafish model
Sources: NHS GMSCreated: 26 Feb 2020, 3:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
Publications
Gene: myl1 has been classified as Amber List (Moderate Evidence).
Gene: myl1 has been classified as Amber List (Moderate Evidence).
Publications for gene: MYL1 were set to 30275711
gene: MYL1 was added gene: MYL1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30275711 Phenotypes for gene: MYL1 were set to Congenital Myopathy 14 (MIM#618414) Review for gene: MYL1 was set to AMBER