Table 1.
Clinical characteristics of the patient population, including, age, sex, body mass index, and diagnostic findings
| Pat. Nr | Sex | Genetics variants | Type | Pheno-type | Age at biopsy (years; months) | Merosin staining | Age at CK (years; months) | CK level | BMI at entry into the registry | Gastro-stomy | Age at MRI (years; months) | cMRI white matter | cMRI structural |
| 1 | F | Two heterozyg. path. | 1,3 | CMD | 7;4 | c | – | – | <P3 | yes | 7;3 | Diffuse | PH+MCM |
| c.3215delG | |||||||||||||
| c.5235-12G > A | |||||||||||||
| 2 | F | Two heterozyg. path. (in trans) | 1,3 | CMD | No date | c | – | – | <P3 | 12;1 | Diffuse | PH+MCM | |
| c.6993-2A>C | |||||||||||||
| c.2049_2050delAG | |||||||||||||
| 3 | F | Two heterozyg. path. (in trans) | 3,4 | CMD | 2;5 | c | 2;5 | >1000 | <P3 | 2;8 | Diffuse | PH+CM+MCM | |
| c.3085C > T | |||||||||||||
| c.4960-17C > A | |||||||||||||
| 4 | F | Heterozyg. path | 3,4 | LGMD | – | Unknown | 11;0 | 3000 | Normal | 18;1 | Diffuse | – | |
| c.2749 + 2dupT | |||||||||||||
| c.3283C > T | |||||||||||||
| 5 | M | Homozyg. path | 3 | CMD | – | Not done | – | Normal | yes | 6;6 | Patchy | CM+BPC | |
| c.4960-17C > A | |||||||||||||
| 6 | F | Homozyg. path. | 3 | CMD | No date | c | – | – | Normal | 8;7 | Diffuse | PH+CM+MCM | |
| c.4960-17C > A | |||||||||||||
| 7 | M | Two heterozyg. VUS+path. | 1,2 | LGMD | No date | p | 3 | >1000 | Normal | – | Not done | – | |
| c.437C > T | |||||||||||||
| c.7865_7869delGAGAA | |||||||||||||
| 8 | M | Homozyg. path.c.7147C > T | 4 | CMD | Not done | 0;6 | 4607 | <P3 | yes | 1;0 | Delayed myelination | PH+BPC | |
| 9 | F | Homozyg. path.c.5235-12G>A | 2, 3 | LGMD* | 1;5 | n | 0;1 | 3245 | Normal | yes | 23;5 | Delayed myelination | PH+CM+BPC |
| 10 | M | Two heterozyg. path. | 3,4 | CMD | 1;5 | c | 0;3 | 4144 | Normal | 0;6 | Delayed myelination | PH+CM+BPC+HC | |
| c.3976C > T | |||||||||||||
| c.5235-12G > A | |||||||||||||
| 11 | F | Two heterozyg. path. | 1,3 | CMD | 0;3 | p | 0;3 | 2593 | Normal | Not done | – | ||
| c.4692_4695dup | |||||||||||||
| c.8244 + 1G > A | |||||||||||||
| 12 | M | Path. | 4 | CMD | – | Done but results un known | – | – | <P3 | yes | 4;4 | White matter changes | – |
| “E967X” | |||||||||||||
| 13 | M | Homozyg. VUS | dup | CMD | 2;3 | c | 0;11 | 676 | <P3 | 0;1 | Normal | PH | |
| Dupl exons 10–12 | |||||||||||||
| 14 | M | Unknown | CMD | 0;4 | c | 0;3 | 5617 | <P3 | yes | 0;3 | Diffuse | – | |
| 15 | M | Two heterozyg. VUS+path. | 1,2 | CMD | – | Not done | 0;2 | 2915 | Normal | 0;1 | Patchy | PH+CM+MCM | |
| c.3651del | |||||||||||||
| c.8405T>G | |||||||||||||
| 16 | M | Unknown | CMD | No date | c | 0;3 | 2981 | <P3 | yes | Not done | na | ||
| 17 | F | Homozyg. VUS | 2/3 | LGMD | – | Not done | 1;7 | 1468 | Not done | 9;3 | Diffuse | PH | |
| c.2537G > T | |||||||||||||
| 18 | M | Homozyg. path. | 4 | CMD | – | Not done | 0;1 | 21160 | Normal | Not done | na | ||
| c.7147C > T |
Notes: P3 = 3rd percentile, c = complete absence, p = partial absence, n = normal. Type: 1 = frameshift, 2 = missense, 3 = splice, 4 = nonsense, dup = duplication; cMRI: PH = pontine hypoplasia, CM = cobblestone malformation, MCM = megacisterna magna, BPC = Blake’s pouch cyst, HC = hydrocephalus; *lost ability to walk.