Skip to main content
. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470

Table 2.

Clinical findings in MDC1A patients included in the overall study.

Patient Age at last visit Mutation Achieved motor milestone Onset of symptoms Age at biopsy Inheritance CK Cardial function Pulmonal function cMRI
1 (female) 2 y Free sitting after being placed at 14 months of age Reduced child movements during pregnancy. pp: muscular weakness 2 m Unknown 4,000 Normal Normal At 4m of age normal
2 (male) 7 y Homozygous: c.5134_5153del (leading to a premature stop-codon; p.Arg1712Glufs*4) Free sitting at 18 months of age, able to scoot on his bottom At the 3 months of age not able to lift the head and poor head control 9 m Recessive 3,434 Normal Normal Not done
3 (male) 6 y Homozygous: c.7898+2T>G (presumably leading to skipping of exon 56; pathogenicity of an adjacent mutation) (c.7898+1G>T) has already been reported (22) Free sitting at 10 months of age after being placed pp: muscular weakness 14 m Recessive 1,584 Corrected QT interval of 451 m/sec (< 440)ECHO normal Normal Leuko-encephalo-pathy
4 (male) 4 y Compound heterozygous: c.397_397delG & c.1884+2T>C Free sitting at 30 months of age after being placed sitting after being placed pp: muscular weakness 4 m Recessive 7,400 Normal Normal Leuko-encephalo-pathy
5 (female) 3y Homozygous: c.8244+1G>A(rs749522728); (23) Walking at 18 months of age with support At the 4 months of age not able to lift the head and muscular weakness. Rhabdomyolysis at the age of 20 months 26m Recessive 2,7000 Normal Normal Not done
6 (female) 2y Homozygous: deletion of exons 31-40 (diagnosed via MLPA) Free sitting at 14 months of age after being placed sitting after being placed At the 3 months of age not able to lift the head and muscular weakness. 14m Recessive 5,200 Normal Normal Leuko-encephalo-pathy

Y, years; m, month; pp, post-partal; CK, creatine kinase; cMRI, cranial magnetic resonance imaging.