Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: MYOT

Green List (high evidence)

As suggested by Zornitza Stark, this gene is currently associated with myofibrillar myopathy-3 (MIM# 609200) in OMIM. Some cases of myofibrillar myopathy-3 were previously classified as a form of limb-girdle muscular dystrophy, type 1A (LGMD1A). LGMD1A has now been reclassified as a form of myofibrillar myopathy.

However, the clinical indication of this panel R82 has now been renamed 'Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies' and the eligibility criteria now includes overlapping phenotypes such as distal myopathy or myofibrillar myopathy.

Created: 4 Mar 2023, 5:43 p.m. | Last Modified: 4 Mar 2023, 5:43 p.m.

Panel Version: 3.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920

I don't know

Associated phenotype was previously known as LGMD1/LGMD1A (OMIM; PMID: 30055862). Phenotypic overlap. PMID: 21336781: Reported a severe case of LGMD. Patient presented with late onset progressive proximal muscle weakness. CK was slightly elevated. Authors concluded that gene is a rare cause of adult onset LGMD. However, note that variant is present in gnomAD (12 hets). PMID: 15947064: 5 variants reported in 13 patients (including 3 families). Late onset, EMG showed myopathic changes in most patients. However, also note nighest MAF (10 hets in gnomAD; Ser60Phe). 9/13 did not show elevated CK levels.

Created: 1 Jul 2020, 7:39 a.m. | Last Modified: 1 Jul 2020, 7:39 a.m.

Panel Version: 2.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, myofibrillar, 3 (MIM#609200)

Publications

• 30055862
• 21336781
• 15947064

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 8:25 a.m.