TABLE 1.

Muscle biopsy report and clinical findings in the study cohort

Pat	Muscle biopsy	Immunohistochemistry				Other motor findings	Brain imaging
	Dystrophic	DYS	LAMA2	SCGA	DYSF
P1	Yes, severe	+	−	+	+	n/a	n/a
P2	Yes, severe	+	−	+	+	n/a	n/a
P3	n/a	n/a	n/a	n/a	n/a	Hypotonia	MRI: Cerebral atrophy, leukodystrophy, posterior lissencephaly
P4	Yes, severe	+	−	n/a	n/a	Hypotonia	MRI: Diffuse white matter changes
P5	Yes, severe	+	Partial	Partial	n/a	Congenital weakness, high CK	CT:normal
P6	Yes, severe	n/a	−	n/a	n/a	Hypotonia, decreased deep tendon reflexes	n/a
P7	Yes, severe	n/a	−	n/a	n/a	Hypotonia	n/a
P8	Yes, severe	+	−	+	+	n/a	n/a

Abbreviations: −, absent; +, present; DYS, dystrophin; DYSF, dysferlin; LAMA2, laminin α2; n/a, not available; Pat, patient; SCGA, α‐sarcoglycan.