Table 1.

Clinical data for the patients.

Patient	Sex/ Age	Age at onset	First symptoms	Muscle weakness	CK level	EMG	Muscle biopsy	Muscle imaging	Other
F1 II:1	M/75	69	Distal weakness	Distal LL (anterior and posterior compartment), mild in proximal LL, very mild in UL	Normal	Myopathy	RV, myofibrillar aggregates	Severe: Gmed, Glat, S, PL (left), hamstrings Moderate: vastii	COPD, no cardiac symptoms
III:2	F/50	n.a.	Distal weakness	No detectable weakness	206	Myopathy	Size variation, internal nuclei	Moderate: Gmed, Glat
F2 II:1	F/65	40	Distal lower leg weakness	Distal LL, distal UL with muscle atrophy	Normal to slightly elevated	Myopathy	Atrophic fibers	Severe: Gmed, Glat, S
F3 II:1	M/70	40	Waddling gait	Distal and proximal LL, distal UL, mild dysphagia; ambulant 500 m with/without cane	655	n.a.	RV, myofibrillar aggregates	Severe: Gmed, Glat, S, PL, hamstrings	VC 97% Echo hypertrophy (hypertension)
III:2	M/39	n.a.	n.a.	No clear weakness but limping gait	239	n.a.	n.a.	Moderate: Gmed (right>>left)
F4 II:1	M/52	47	Difficulty walking on toes	Distal LL with muscle atrophy in EDB and calf muscles	Normal	Mild myopathy	RV	Severe: Gmed, Glat, S Moderate: hamstrings	FEV1 78%, FVC 64%, no dyspnea Echo normal
F5 II:2	F/81*	n.a.	Lower limb muscle weakness	Mild distal and proximal, dysarthria	n.a.	n.a.	n.a.	n.a.
III:2	M/51	20	Difficulty walking	Distal and proximal with diffuse muscle atrophy, Achilles tendon contractures	213	Small motor units, fibrillation, fasciculations	RV	Diffuse in thigh and leg muscles (prox>dist)	ECG normal, no cardiac symptoms

COPD, chronic obstructive pulmonary disease; ECG, electrocardiography; EDB, extensor digitorum brevis; FEV1, forced expiratory volume in one second; FVC, forced vital capacity; Glat, gastrocnemius lateralis; Gmed, gastrocnemius medialis; n.a., not available; LL, lower limbs; PL, peroneus longus; RV, rimmed vacuoles; S, soleus; UL, upper limbs; VC, vital capacity.

^*Age at death.