. 2024 Nov 26;19:438. doi: 10.1186/s13023-024-03429-x

Table 2.

Summary of cohort characteristics as presented during the conference

	Korea									Turkey/ India		USA			India
Publication	Park et al. 2016¹				Park et al. 2017a⁴	Park et al. 2017b²				Mrocek et al. 2020¹⁰		Farid et al. 2023¹³			Baskar et al. 2024⁹				Baskar and Atchayaram, unpublished
ID	1	2	3	4	5	6	7	8	9	1	2	1	2	3	1	2	3	4	5	6	7	8	9
Sex	M	M	M	F	F	M	M	F	M	M	F	M	F	M	F	M	F	M	F	F	M	F	M
Variants	^{a, b}	^{a, b}	^{a, b}	^{a, b}	^{a, b}	^{a, b}	^{a, b}	^{a, b}	^{a, c}	^{d, d}	^{a, a}	^{a, a}	^{a, a}	^{a, a}	^{a, a}	^{a, a}	^{e, e}	^{a, a}	^{a, a}	^{a, a}	^{a, a}	^{a, a}	^{a, a}
Age at onset	15	13	13	13	8	5	7	7	6	18	5	1	3	17	7	10	13	17	1	13	5	28	17
Disease duration	16	17	15	10	7	24	25	30	28	16	13	13	16	46	12	5	11	10	2	5	34	4	48
Clinical presentation
Diffuse muscle weakness	+	+	+		+	+	+	+	+
Ankle dorsiflexor weakness	+	+	+			+			+
Distal muscle weakness				+			+	+		+	+	+
Proximal muscle weakness/atrophy (quadriceps)							+	+		+			+		+	+	+	+	+	+	+	+	+
Generalised muscle atrophy										+
Tripping																	+			+
Facial muscle involvement	+	+	+	+	+	+	+	+	+	+	+			+			+	+		+	+		+
Serum creatine kinase IU/L, mean SD range	365	271	250	493	281	420	431	108	493	960–1850	150–1410				150	123	129	1564	932	221
Muscle histopathology
Rimmed vacuoles	+	+	+															+			+	+
Chronic myopathy/necrosis				+		+				+												+
Internalised nuclei										+	+
Nemaline rods							+											+
Fibre size variation											+											+	+
Scattered hyaline fibres											+
Intracellular lipid vacuoles																	+			+
Polyglucosan aggregates																					+
Ragged red fibres																				+
Cytochrome c oxidase deficiency																					+
Congenital fibre type disproportion																				+

Key: ^ac.910G > A/ c.781G > A, ^bc.1048delA/c.919delA, ^cc.1220T > C, ^dc.898G > A, ^ec.794G > A; + denotes symptoms and histopathologies