Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: DOK7
Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404.
Association with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.Created: 13 Jun 2021, 8:34 a.m. | Last Modified: 13 Jun 2021, 8:34 a.m.
Panel Version: 0.7961
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Publications
PMID: 31453852 - two adult patients with PTC variants and severe proximal muscle weakness with childhood onset. Condition is described as limb girdle myasthenia. Patient 1 had shoulder abduction and severe weakness of the pelvic girdle, patient 2 had muscle biopsy reveal muscle fibre II atrophy.
PMID: 32360404 - one adult patient with late onset atypical limb-girdle pattern of muscle weakness. Biopsy of deltoid muscle shows no features of MD.
PMID: 18626973 - 16 patients report proximal limb weakness, where 10 report neonatal onset.
Sources: Expert listCreated: 1 Jul 2020, 2:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 10 254300
Publications
DOK7 is not a congenital myopathy per say, but frequently presents with a limb girdle phenotype. Affected patients may have investigations for limb girdle muscular dystrophies or congenital myopathies and so it should be included on a myopathy panel. Importantly in some patients it is treatable with salbutamol.Created: 15 Jun 2020, 10:23 a.m. | Last Modified: 15 Jun 2020, 10:24 a.m.
Panel Version: 0.207
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome type 10 - Limb Girdle Phenotype
Publications
Comment on list classification: Variable age of onset, that includes adult onsetCreated: 24 Feb 2020, 5:10 a.m. | Last Modified: 24 Feb 2020, 5:10 a.m.
Panel Version: 0.37
>3 unrelated cases reported with myopathic changes in muscles.
Sources: Expert ReviewCreated: 24 Feb 2020, 5:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 10 MIM#254300
Publications
Gene: dok7 has been classified as Green List (High Evidence).
Publications for gene: DOK7 were set to PMID: 31453852; 32360404
Gene: dok7 has been classified as Green List (High Evidence).
gene: DOK7 was added gene: DOK7 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to PMID: 31453852; 32360404 Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10 254300 Review for gene: DOK7 was set to GREEN