611220.1

Lebanon

Proximal muscle weakness; Gowers sign; Impaired mastication; Dysphagia; Hyperlordosis; Obesity; Myopathy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_173167.3:c.2261G>A	2		Myofibrillar Myopathy 11

Proband