Table 1.

Patient characteristics, muscle biopsy findings and pathogenic variants of patients for which muscle biopsies were included in the study. Pat. No.: patient number; UL: upper limbs, LL: lower limbs.

Pat. No.	Sex	Age of Onset/at Biopsy	Neurological Findings at Time of Biopsy	Creatin–Kinase (U/L)	Muscle Biopsy Findings	Mono–Allelic Pathogenic Variants	Further Remarks
1	m	44/46	Scapula alata, atrophy of proximal UL, proximal paresis of LL	200–300	Muscle fiber variability, fiber splitting, focal lipofibromatosis, vacuoles, cell necrosis	c.464G>A, p.[Arg155His]
2	m	30/35	Cramps and myalgia at muscle exercise, slight proximal paresis of LL	700–1000		c.464G>A, p.[Arg155His]
3	m	50/58	Cramps and myalgia Proximal and distal UL weakness Distal LL weakness	432–483	Rare small angular fibers; rimmed vacuoles; rare cytoplasmic bodies, fibrosis, necrosis (rare) Type 1 fiber predominance	c.648A>G p.[Ile216Met]	No family history
4	f	43/45	Scapula alata; distal UL and LL weakness	Normal	Fiber size variability; small atrophic fibers; some internalized nuclei; rimmed vacuoles; ragged red fibers (rare); Type 1 fiber predominance	c.474G>A p.[Met158Ile]	Scoliosis from childhood
5	m	60/63	Scapula alata; Proximal UL weakness; Distal UL and LL weakness (drop feet)	317	Slight fiber size variability; some internalized nuclei; scattered small atrophic fibers; focal increase of connective tissue	c.785C>G p.[Thr262Ser]
6	m	50/53	Scapula alata Proximal UL, distal LL weakness	557	Moderate fiber size variability; some internalized nuclei; scattered small atrophic fibers; focal increase of connective tissue, Rimmed vacuoles	c.464G>A, p.[Arg155His]	Scoliosis, Paget’s bone disease
7	M	69/71	Scapula alata, proximal UL and LL, distal LL weakness	230	Slight fiber size variability; some internalized nuclei; scattered small atrophic fibers; focal increase of connective tissue	c.C277C>T, p.[Arg93Cys]	Scoliosis, axonal neuropathy of the legs