Muscular dystrophy and myopathy_Paediatric
Gene: LMOD3
Age of onset is typically during pregnancy (antenatal) however severity of the condition is variable.
Typical phenotypes include: severe generalized hypotonia and weakness at birth, respiratory insufficiency, feeding difficulties, and bulbar weakness
PMID: 25250574
Multiple individuals from unrelated families (21 individuals from 14 patients).
Segregation analysis was consistent of an AR inheritance
Zebrafish model showed the complete loss of function in myotubes resulting in abnormal motor function.
Sources: OtherCreated: 8 May 2023, 11:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 10 (MIM# 616165; MONDO:0014513)
Publications
Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterised by early-onset generalised muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Severity is highly variable.
Over 20 families reported.Created: 16 Oct 2020, 7:04 a.m. | Last Modified: 16 Oct 2020, 7:04 a.m.
Panel Version: 0.287
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 10, MIM# 616165
Publications
Gene: lmod3 has been classified as Green List (High Evidence).
Gene: lmod3 has been classified as Green List (High Evidence).
gene: LMOD3 was added gene: LMOD3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to 25250574; 28815944; 30291184 Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10 (MIM# 616165; MONDO:0014513) Review for gene: LMOD3 was set to GREEN