Humeroperoneal

pattern of weakness

Early cardiac involvement, No cardiac involvement, laxity

no joint laxity of joints, protuberant calcanei

Consider genetic testing for mutations in

Inheritance pattern
collagen VI (Bethlem or Ullrich myopathy)

Autosomal Positive collagen Negative collagen

X-linked*
dominant* VI mutation VI mutation

Consider genetic Consider genetic Autosomal recessive,*

Autosomal dominant,*
testing for mutations testing for mutations neonatal or
age at onset variable
in lamin A/C in emerin (XR-EDMD) congenital onset

Negative Bethlem myopathy Ullrich myopathy

Consider genetic testing

for mutations in nesprin
Muscle biopsy
1 and 2 and TMEM43/
LUMA (EDMD3, 4, 5)

Negative

Myofibrillar myopathy with reducing Myofibrillar Nonspecific

bodies, or X-linked inheritance myopathy features

Consider genetic testing Consider genetic testing

for mutations in FHL1 for mutations in desmin

Negative Consider genome- or exome-wide screening

or next-generation sequencing

Figure e-1. Diagnostic approach to patients with a humeroperoneal pattern of weakness and suspected muscular
dystrophy (Emery-Dreifuss muscular dystrophy)
* Autosomal dominant, autosomal recessive, or X-linked inheritance may be responsible in sporadic cases. EDMD = Emery-Dreifuss muscular dystrophy.