Background Congenital myopathies are severe genetic diseases with a strong impact on
patient autonomy and often on survival. A large number of patients do not have a genetic …

Pathogenic variants in the titin gene (TTN) are known to cause a wide range of cardiac and
musculoskeletal disorders, with skeletal myopathy mostly attributed to biallelic variants. We …

Objective Biallelic titin truncating variants (TTNtv) have been associated with a wide
phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic …

Congenital titinopathies reported to date show autosomal recessive inheritance and are
caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only …

Pathogenic variants in LMNA have been associated with a wide spectrum of muscular
conditions: the laminopathies. LMNA-related congenital muscular dystrophy is a …

Approximately 1% to 2% of reproductive couples (ie, the two genetic contributors to a
pregnancy) have an “increased chance” of having children with autosomal recessive (AR) or …

Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …

We present a family with two male siblings diagnosed with a newly described digenic
myopathy, involving likely pathogenic loss‐of‐function variants in the SRPK3 and TTN …

Rare diseases are characterized by a low prevalence, which often means that patients with
such diseases are undiagnosed and do not have effective treatment options …

TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French
adult male patients carrying the TIA1 p. Asn357Ser and SQSTM1 p. Pro392Leu variant and …