All individuals with variants in gene MICU1

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00001239 - - - - - Netherlands - - 1 - - LGMD2 - 1 1 Johan den Dunnen
00054685 Pat103 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >08y - - - MDC gross motor delay, walked age 2.5y, proximal weakness, choreiform movements, moderate intellectual disability, MRI - T2 hyperintensities; CPK elevated (600-3100); histology non-specific 2 1 Sandra Cooper
00064044 - PubMed: Logan 2014 9-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents, sister-1 F yes Netherlands - >23y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; ptosis; EMG?; nerve conduction velocity?; MRI brain?; CPK 1000-8900 IU/L; severe learning difficulties 1 2 Marjolein Kriek
00064045 - PubMed: Logan 2014 9-generation family, sister-2 F yes Netherlands - >7y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; no chorea; dystonia; no paroxysmal ataxia; no short stature; skin vitiligo; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 5000 IU/L; severe learning difficulties 1 1 Marjolein Kriek
00064046 - PubMed: Logan 2014 3-generation family, brother-1 M no Netherlands - >8y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; no chorea; no dystonia; paroxysmal ataxia; short stature; skin atopic dermatitis; no microcephaly; astigmatism, hypermetropia; EMG?; nerve conduction velocity?; MRI brain linear calcification frontal lobe; CPK 800-9000 IU/L; mild learning difficulties 1 2 Marjolein Kriek
00064047 - PubMed: Logan 2014 3-generation family, brother-2 M no Netherlands - >3y1m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; paroxysmal ataxia; no short stature; normal skin; no microcephaly; hypermetropia; EMG?; nerve conduction velocity?; MRI brain normal; CPK 2000-4000 IU/L; mild learning difficulties 1 1 Marjolein Kriek
00064048 - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 2a M yes United Kingdom (Great Britain) Pakistani >5y - - - MPXPS muscle weakness, proximal, early onset; currently running; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2500 IU/L; mild learning difficulties 1 5 Johan den Dunnen
00064049 - PubMed: Logan 2014 5-generation family, patient 2b F yes United Kingdom (Great Britain) Pakistani >22m - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2800 IU/L; no learning difficulties 1 1 Johan den Dunnen
00064050 - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 3a M yes United Kingdom (Great Britain) Pakistani >5y10m - - - MPXPS muscle weakness, proximal, early onset; currently running; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain?; CPK 1300 IU/L; mild learning difficulties 1 5 Johan den Dunnen
00064051 - PubMed: Logan 2014 5-generation family, patient 3b F yes United Kingdom (Great Britain) Pakistani >3y2m - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK -; severe learning difficulties 1 1 Johan den Dunnen
00064052 - PubMed: Logan 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistani >10y8m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin atopic dermatitis; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 300-4000 IU/L; severe learning difficulties 1 1 Johan den Dunnen
00064053 - PubMed: Logan 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents, atient 5 M yes United Kingdom (Great Britain) Pakistani >13y7m - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin icthyosis; no microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 6000-12500 IU/L; severe learning difficulties 1 2 Johan den Dunnen
00064054 - PubMed: Logan 2014 4-generation family, patient 6 F yes United Kingdom (Great Britain) Pakistani >10y8m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; dystonia; no paroxysmal ataxia; no short stature; skin icthyosis, atopic dermatitis; microcephaly; optic atrophy; EMG myopathic; normal nerve conduction velocity; MRI brain normal; CPK 4800 IU/L; severe learning difficulties 1 1 Johan den Dunnen
00064055 - PubMed: Logan 2014 unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Pakistani >6y - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; chorea; dystonia; no paroxysmal ataxia; short stature; skin icthyosis; microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2900-4200 IU/L; severe learning difficulties 1 1 Johan den Dunnen
00064056 - PubMed: Logan 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents,patient 8a F no United Kingdom (Great Britain) Pakistani >27y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; chorea; no dystonia; paroxysmal ataxia; short stature; normal skin; no microcephaly; nystagmus; EMG myopathic; nerve conduction velocity reduced; MRI brain normal; CPK 8000 IU/L; severe learning difficulties 1 2 Johan den Dunnen
00064057 - PubMed: Logan 2014 2-generation family, patient 8b F no United Kingdom (Great Britain) Pakistani >17y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG myopathic; nerve conduction velocity increased; MRI brain small cerebellum; CPK 1600 IU/L; mild learning difficulties 1 1 Johan den Dunnen
00064058 - PubMed: Logan 2014 unaffected heterozygous carrier parents M no United Kingdom (Great Britain) Pakistani >13y7m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; chorea; dystonia; no paroxysmal ataxia; short stature; normal skin; no microcephaly; ptosis; EMG normal; normal nerve conduction velocity; MRI brain signal change in globus pallidus; CPK 5000-8000 IU/L; severe learning difficulties 1 1 Johan den Dunnen
00307956 15DG0299 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Intellectual disability, Seizures; Attention deficit hyperactivity disorder 1 1 Johan den Dunnen
00411256 198231 - - M ? Germany - - - - - MPXPS Muscular dystrophy, Migraine, Attention deficit hyperactivity disorder, Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Reduced muscle fiber alpha dystroglycan, Left anterior fascicular block 1 1 Andreas Laner
00445138 - - - M no India - - - - - MPXPS Proximal muscle weakness (HP:0003701) Myalgia (HP:0003326) Scapular winging (HP:0003691) Abnormal lumbar spine morphology (HP:0100712) Waddling gait HP:0002515 2 1 Gautham Arunachal
00466475 Fam1PatIV1 PubMed: Beheshti 2025, Journal: Beheshti 2025 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - NMD see paper; ..., neck flaccidity, persistent proximal weakness, developmental dela; 22m-walk, speach two word; left esotropia, elevated CK level (3486 U/L), difficulty climbing stairs, migraines with aura, ADHD, social skills deficits 1 1 Johan den Dunnen
00466476 Fam2PatV2 PubMed: Beheshti 2025, Journal: Beheshti 2025 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - NMD see paper; ..., feeding difficulties, delayed developmen; walk on toes, right leg weakening progressively, CK level elevated (2,070,070 U/L); lower limbs weakness one side, tremors, clinodactyly, episodes of stiffness, autism-ADHD symptoms 1 1 Johan den Dunnen
00466477 Fam3PatIV1 PubMed: Beheshti 2025, Journal: Beheshti 2025 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - NMD see paper; ..., delayed motor-speech development; 11m-seizure; markedly elevated CK (above 5000 U/L), EMG primary myopathy, minimal biopsy changes, MRI normal, bilateral moderate visual impairment 1 1 Johan den Dunnen
00466478 Fam4PatII5 PubMed: Beheshti 2025, Journal: Beheshti 2025 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - NMD see paper; ..., late-onset myopathy; 29y-progressive proximal weakness, ataxia, wasting, migraines, diabetes, transient ischemic attacks, dysphagia, dementia; elevated CK, elevated LDH, cerebral atrophy, sensory axonal polyneuropathy, wheelchair-bound 1 2 Johan den Dunnen
00466479 Fam5PatV3/4 PubMed: Beheshti 2025, Journal: Beheshti 2025 5-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives M yes Iran Arab - - - - NMD see paper; ..., 2y-regressed; developed valproate-controlled drop seizure; intellectually disability, minimal speech 1 2 Johan den Dunnen
00466480 Fam6PatIII1 PubMed: Beheshti 2025, Journal: Beheshti 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - NMD see paper; ..., 2y-walk, delayed milestone; short stature, hypertrophic muscles, proximal weakness, elevated CK; EMG/biopsy confirm slowly progressive mitochondrial myopathy, hypertrophic type-1 fibers, degeneration 1 1 Johan den Dunnen
00466481 FamPatV1 PubMed: Mojbafan 2020, Journal: Mojbafan 2020 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - hCK see paper; 5y- incidental raised CK (5175 U/L); 5y-calf hypertrophy, ambulant, no positive Gowers sign; poor weight gain; ECG heart right side enlargement, mild pericardial infusion; 10y-extrapyramidal signs; delayed speech 1 2 Johan den Dunnen
00466482 FamPatV2 PubMed: Mojbafan 2020, Journal: Mojbafan 2020 younger sister F yes Iran - - - - - hCK see paper; ..., elevated level CK (3442 U/L), AST (136 U/L), ALT (73 U/L), LDH (799 U/L); EMG/NCV normal; speech delay 1 1 Johan den Dunnen
00466483 patient PubMed: Wilton 2020, Journal: Wilton 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - ? see paper; ..., 9m-sit; 3y-delay fine motor control; MRI brain multiple congenital malformations, anterior perisylvian polymicrogyria, dysmorphic basal ganglia, cerebellar dysplasia, white matter abnormalities; 12y-prominently hyperreflexic, clonus left side; no microcephaly; no short stature; no poor growth; muscle weakness; hyperopia, amblyopia; extrapyramidal signs; no neuropathy; abnormal gait; seizures; intellectual disability, learning difficulties; developmental delay; speech delay; facial dysmorphisms; no hepatomegaly; elevated CK level; encephalopathy 2 1 Johan den Dunnen
00466484 family PubMed: Bitarafan 2021, Journal: Bitarafan 2021 6-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - MYOP see paper; ..., learning disability, muscle weakness, easy fatigability, reduced tendon reflexes, ataxia, gait disturbance, elevated hepatic transaminases, elevated serum creatine kinase, elevated lactate dehydrogenase 1 3 Johan den Dunnen
00466485 patient PubMed: Sharova 2022, Journal: Sharova 2022 2-generation family, 1 affected, unaffected parents M - Russia - - - - - MYOP see paper; ..., elevated plasma CK level, 3 acute episodes muscular weakness; lumbar hyperlordosis, winged scapula; reduced tendon reflexes; no ataxia, no extrapyramida; MRI brain normal 1 1 Johan den Dunnen
00466486 patient PubMed: Finsterer 2024, Journal: Finsterer 2024 2-generation family, 1 affected, unaffected heterozygous carrier parentsmyop F yes Austria - - - - - MYOP see paper; ..., developmental delay, intellectual disability, ataxia, dysmorphia (dolichocephaly, arachnodactyly, clinodactyly, hypertelorism, wide nasal bridge), myopathy (ptosis, double vision, strabismus, distal limb weakness, diffuse wasting, hypotonia), hyperextensible joints, hyperkyphosis 1 1 Johan den Dunnen
00466487 Pat1 PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - MYOP see paper; ... 1 1 Johan den Dunnen
00466488 Pat2 PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - MYOP see paper; ..., 1y10m-acute ataxia, spontaneously regressed within 2d; elevated CK value (10,000 U/l); 2y8m-bilateral enlarged calf muscles, normal tendon reflexes, grossly normal muscle strength, no Gower's sign, normal ability to climb stairs 2 1 Johan den Dunnen
00466489 Fam1 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height 5th %ile; weight 5th %ile; OFC 50th %ile; hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; muscular cramps; proximal myopathy 1 1 Johan den Dunnen
00466490 Fam2 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected parents F no Qatar Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height 5th %ile; weight 25th %ile; OFC 50th %ile; hypotonia; hepatomegaly hepatosplenomegaly; abnormal gait; no frequent falls; ventricular septal defect; no learning disability; 10y-extrapyrimidal signs; dysmorphism; MRI abnormal, white matter changes; hemolytic anemia, low IgG, B, T, NK cells; massive hepatosplenomegaly 1 1 Johan den Dunnen
00466491 Fam3 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height <5th %ile; OFC 75th %ile; no hypotonia; hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; easy fatiguability, muscle pain with walking long distances; increased liver periportal echogenicity on ultrasound abdomen 1 1 Johan den Dunnen
00466492 Fam4 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; normal growth; height 50th %ile; weight 50th %ile; no hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; hyperactivity 1 1 Johan den Dunnen
00466493 Fam5 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; no hypotonia; normal gait; frequent falls; no ventricular septal defect; learning disability; 25y-extrapyrimidal signs; calf muscle hypertrophy; seizures; muscular cramps; tremors; postural dystonia; three similarly affected brothers 1 3 Johan den Dunnen
00466494 Fam6 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected parents F no - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height <5th %ile; weight <5th %ile; no hypotonia; no hepatomegaly; ventricular septal defect; no extrapyrimidal signs; dysmorphism (short neck, doughy skin, lax joints, down turned lower lip, tented upper lip, mild syndactly); ultrasound coarse liver 1 1 Johan den Dunnen
00466495 Fam7 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; elevated liver transaminases; elevated CK level; normal growth; height 25th %ile; weight 505th %ile; hypotonia; abnormal gait; frequent falls; no ventricular septal defect; no extrapyrimidal signs 2 1 Johan den Dunnen
00466496 Fam8 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; elevated liver transaminases; elevated CK level; normal growth; height 25–50th %ile; weight 25–50th %ile; 25–50th %ile; hypotonia; abnormal gait; no ventricular septal defect; learning disability; no extrapyrimidal signs; positive Gower sign; two similarly affected brothers/one similarly affected sister (2y-deceased) 1 3 Johan den Dunnen
00466497 Fam9 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; normal growth; height 50th %ile; weight 50th %ile; OFC 50th %ile; no hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; seizures; hyperactivity 1 1 Johan den Dunnen
00466498 Fam10 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - NMD see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; normal growth; height 10th %ile; weight 10th %ile; OFC 25th %ile; hypotonia; no hepatomegaly; no ventricular septal defect; learning disability; 4y-extrapyrimidal signs; myopathic face; choreoathetoid movement hands/legs; orofacial dyskinesia 1 1 Johan den Dunnen
00466499 Fam PubMed: Lewis-Smith 2016, Journal: Lewis-Smith 2016 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United Kingdom (Great Britain) - - - - - ? see paper; ..., childhood fatigue, lethargy 1 4 Johan den Dunnen
00466501 family PubMed: Saneto 2022, Journal: Saneto 2022 family, 2 affected brothers M - United States - - - - - ? see paper; ..., global developmental delay, hypotonia; motor delay, extrapyramidal abnormal movements; elevated creatine kinase 2 2 Johan den Dunnen
00466507 Pat84 PubMed: Alfares 2017, Journal: Alfares 2017 - - - Saudi Arabia - - - - - MYOP see paper; ..., myopathy with extrapyramidal signs, skeletal abnormalities, elevated creatine kinase 1 1 Johan den Dunnen
00466508 family PubMed: Fevga 2022, Journal: Fevga 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - DYT see paper; ..., prominent segmental dystonia, proximal weakness, facial dysmorphisms; sensory neuropathy; achexia; cleft palate; hypothyroidism; left radioulnar synostosis; seizures; intellectual disability (IQ55); hypothyroidism 1 1 Johan den Dunnen
00466509 Pat12/13 PubMed: Ten Dam 2021, Journal: Ten Dam 2021 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - LGMD see paper; ..., 5y-elevated serum CK (5390 IU/L); muscle biopsy severe dystrophic pattern; decreased exercise tolerance in early childhood, proximal muscle weakness, able to walk unaided; learning disabilities; ataxia 1 2 Johan den Dunnen
00466510 patient PubMed: Klee 2021, Journal: Klee 2021 1/1101 undiagnosed cases - - United States - - - - - ? - 2 1 Johan den Dunnen
00466511 Pat22 PubMed: Cherot 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - NDD yopathy with extrapyramidal signs 2 1 Johan den Dunnen
00466512 patient PubMed: Mukherjee 2023, PubMed: Mukherjee 2023 2-generation family, 1 affected, unaffected parents M - India - - - - - MYOP see paper; ..., proximal myopathy, calf muscle hypertrophy, skeletal deformities, choreiform movements upper extremities; extrapyramidal signs 1 1 Johan den Dunnen
00466513 patient PubMed: Alkelai 2023 - - - Israel jew - - - - SCZD see paper; ..., neurological condition; childhood-onset schizophrenia 1 1 Johan den Dunnen
00466868 Fam1PatII1 Journal: Li 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - China - - - - - MYOP see paper; ..., difficulty walking, walking tiptoes, difficulty squatting/standing, poor balance, inability to hop on one foot; 6y-attention deficit hyperactivity disorder, learning difficulties 2 2 Johan den Dunnen
00466869 Fam1PatII2 Journal: Li 2025 brother M - China - - - - - MYOP see paper; ..., normal motor development, normal intellectual development, no clinical manifestations, normal neurological examination, normal liver function, normal muscle enzyme profiles 2 1 Johan den Dunnen
00466870 Fam2PatII1 Journal: Li 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - MYOP see paper; ..., 2y-flat feet; 3y-occasional retrosternal pain, hyperactivity, poor concentration, normal motor function 2 2 Johan den Dunnen
00466872 Fam2PatII2 Journal: Li 2025 sister F - China - - - - - MYOP see paper; ..., normal intellectual development, normal motor development, no clinical manifestations, normal neurological examination, normal liver function, normal muscle enzyme profiles 2 1 Johan den Dunnen
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