# Miopatia mitocondrial

> Página oficial: https://raras.org/doenca/miopatia-mitocondrial
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-09

## Identificadores

- **ORPHA**: 206966 — https://www.orpha.net/en/disease/detail/206966
- **CID-10**: G71.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Miocardiopatia causada por problemas nas mitocôndrias.

## Epidemiologia e herança


## Sinais e sintomas (648 fenótipos HPO)

- **Aumento do piruvato sérico** — HPO: HP:0003542
- **Reflexo primitivo** — HPO: HP:0002476
- **Deformidade em equinovaro** — HPO: HP:0008110
- **Fraqueza muscular distal progressiva** — HPO: HP:0009063
- **Esteatose hepática difusa** — HPO: HP:0006555
- **Calafrios** — HPO: HP:0025145
- **Insuficiência hepática crônica** — HPO: HP:0100626
- **Reflexo patelar diminuído** — HPO: HP:0011808
- **Calcâneo equino** — HPO: HP:0008138
- **Déficit de crescimento na infância** — HPO: HP:0001531
- **Hipocalcemia** — HPO: HP:0002901
- **Astenia** — HPO: HP:0025406
- **Anormalidade dos tratos espinocerebelares** — HPO: HP:0003133
- **Desequilíbrio da marcha** — HPO: HP:0002141
- **Déficit na memória de curto prazo fonológica** — HPO: HP:0002549
- **Cifose** — HPO: HP:0002808
- **Amiotrofia esternocleidomastoidea** — HPO: HP:0012036
- **Deficiência auditiva neurossensorial de início na idade adulta** — HPO: HP:0008615
- **Atrofia muscular da cintura escapular/pélvica** — HPO: HP:0003797
- **Delírio** — HPO: HP:0031258
- **Contratura do tendão de Aquiles** — HPO: HP:0001771
- **Deficiência intelectual, moderada** — HPO: HP:0002342
- **Hiperreflexia do membro inferior** — HPO: HP:0002395
- **Dificuldade para correr** — HPO: HP:0009046
- **Fraqueza fatigável dos músculos respiratórios** — HPO: HP:0030196
- **Rabdomiólise induzida por infecção viral** — HPO: HP:0003558
- **Filtro longo** — HPO: HP:0000343
- **Fístula vaginal** — HPO: HP:0004320
- **Nariz curto** — HPO: HP:0003196
- **Hiporreflexia de membros superiores** — HPO: HP:0012391
- **Dismetria de membro** — HPO: HP:0002406
- **Deterioração psicomotora** — HPO: HP:0002361
- **Paralisia do olhar para cima** — HPO: HP:0025331
- **Intensidade anormal do sinal de RM talâmica** — HPO: HP:0012696
- **Neurite óptica** — HPO: HP:0100653
- **Anormalidade do líquido cefalorraquidiano** — HPO: HP:0002921
- **Fácies em máscara** — HPO: HP:0000298
- **Anormalidade da função motora central** — HPO: HP:0011442
- **Bócio** — HPO: HP:0000853
- **Fraqueza do músculo quadríceps** — HPO: HP:0003731
- _...e mais 608 sintomas. Ver https://raras.org/doenca/miopatia-mitocondrial._

## Genes associados (53)

- **SDHA** — Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to
- **SCO1** — Cytochrome c oxidase assembly factor SCO1 [Candidate gene tested in]
  - Função: Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Together with SCO2, involved in delivering copper to the Cu(A) site on MT-CO2/COX2 (PubMed:152291
- **MT-ATP8** — ATP synthase F(0) complex subunit 8 [Candidate gene tested in]
  - Função: Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generate
- **MT-TW** [Candidate gene tested in]
- **MT-CO3** — Cytochrome c oxidase subunit 3 [Candidate gene tested in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **MT-CO2** — Cytochrome c oxidase subunit 2 [Candidate gene tested in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **MT-TQ** [Candidate gene tested in]
- **MT-ND4** — NADH-ubiquinone oxidoreductase chain 4 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-CO1** — Cytochrome c oxidase subunit 1 [Candidate gene tested in]
  - Função: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes suc
- **MT-TS2** [Candidate gene tested in]
- **MT-TL2** [Candidate gene tested in]
- **MT-TL1** [Candidate gene tested in]
- **MT-TT** [Candidate gene tested in]
- **TRMU** — Mitochondrial tRNA-specific 2-thiouridylase 1 [Candidate gene tested in]
  - Função: Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochon
- **MT-TE** [Candidate gene tested in]

## Ensaios clínicos ativos (6)

- **NCT07478172** [RECRUITING]: Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease — https://clinicaltrials.gov/study/NCT07478172
- **NCT07450690** [RECRUITING]: Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy — https://clinicaltrials.gov/study/NCT07450690
- **NCT06451757** [RECRUITING]: KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases — https://clinicaltrials.gov/study/NCT06451757
- **NCT06644534** [RECRUITING]: A Study to Assess TTI-0102 vs Placebo in MELAS Patients — https://clinicaltrials.gov/study/NCT06644534
- **NCT04802707** [RECRUITING]: Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome — https://clinicaltrials.gov/study/NCT04802707
- **NCT05590468** [ACTIVE_NOT_RECRUITING]: A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy — https://clinicaltrials.gov/study/NCT05590468
- **NCT04641962** [TERMINATED]: A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy — https://clinicaltrials.gov/study/NCT04641962
- **NCT06180421** [COMPLETED]: Mitochondrial Video Assessment Source Material Study — https://clinicaltrials.gov/study/NCT06180421
- **NCT05267574** [TERMINATED]: An Open Label, Long Term Safety Study of REN001 in Primary Mitochondrial Myopathy Patients (Stride Ahead) — https://clinicaltrials.gov/study/NCT05267574
- **NCT04535609** [COMPLETED]: An Efficacy and Safety Study of 24 Week Treatment With Mavodelpar (REN001) in Primary Mitochondrial Myopathy Patients — https://clinicaltrials.gov/study/NCT04535609

## Doenças relacionadas (por similaridade fenotípica)

- [Deficiência de citocromo C oxidase fatal da infância](https://raras.org/doenca/deficiencia-de-citocromo-c-oxidase-fatal-da-infancia) — ORPHA:1561 — 141 sintomas em comum
- [Oftalmoplegia externa progressiva autossômica dominante](https://raras.org/doenca/oftalmoplegia-externa-progressiva-autossomica-dominante) — ORPHA:254892 — 125 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 120 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 117 sintomas em comum
- [Encefalomiopatia neurogastrointestinal mitocondrial](https://raras.org/doenca/encefalomiopatia-neurogastrointestinal-mitocondrial) — ORPHA:298 — 113 sintomas em comum
- [Neuro-hepatopatia de Navajo](https://raras.org/doenca/neuro-hepatopatia-de-navajo) — ORPHA:255229 — 113 sintomas em comum
- [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 113 sintomas em comum
- [Anemia sideroblástica genética](https://raras.org/doenca/anemia-sideroblastica-genetica) — ORPHA:98362 — 111 sintomas em comum
- [Miopatia nemalínica](https://raras.org/doenca/miopatia-nemalinica) — ORPHA:607 — 111 sintomas em comum
- [Deficiência qualitativa ou quantitativa da tropomiosina](https://raras.org/doenca/deficiencia-qualitativa-ou-quantitativa-da-tropomiosina) — ORPHA:284790 — 105 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

---

**Citação sugerida**: Raras.org — Miopatia mitocondrial. Disponível em: https://raras.org/doenca/miopatia-mitocondrial
**Formato HTML**: https://raras.org/doenca/miopatia-mitocondrial
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=206966